Varaico: Literature-Extracted Genetic Variants

Gene:FOXL2
Variant:p.S78insFs
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FOXL2

NM_023067.4:p.S78insFs

Associated Papers

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Duarte AF et al.

Ophthalmology, 2017

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

Gulati R et al.

European Journal of Medical Genetics, 2014

An investigation into FOXE1 polyalanine tract length in premature ovarian failure.

Watkins WJ et al.

Molecular Human Reproduction, 2006

Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.

Vincent AL et al.

Clinical Genetics, 2005

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.

Kosaki K et al.

Ophthalmic Genetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."